From the Clinic and Imaging Suite

Abstract

An 18-year-old female presented to the clinic with neck and back pain, a broad short neck, low posterior hairline, and decreased cervical range of motion. The patient was born via vaginal delivery with no noted complications. The patient had no previous history of surgical spine treatment. Both parents were in good health; however, one of her four siblings had a repaired atrial septal defect and a broad short neck. Clinical evaluation noted intact upper and lower extremity sensory-motor function with no bowel or bladder dysfunction. Congenital left-sided deafness was present. Dynamic plain radiographic assessment demonstrated extensive congenital bone fusion or improper vertebral segmentation of her cervical spine from C2 to C6 with no presence of a hypermobile segment, but excessive superior odontoid migration (Fig. 1). Anteroposterior plain radiograph noted the presence of multiple hemivertebrae located at the cervicothoracic junction and abnormal rib fusion of the first and second ribs (Fig. 2). A left convex cervicothoracic curve of 67 degrees was noted accompanied by a right convex mid to upper thoracic curvature of 50 degrees (Fig. 3). No lumbar or sacral anomalies were observed in this patient (Fig. 4). A complete systems evaluation was conducted, which disclosed no additional abnormalities with the exception of dextracardia (Fig. 3); however, no significant cardiac irregularities were found. The radiographic and clinical assessment revealed characteristic findings of Klippel-Feil syndrome (KFS) with congenital scoliosis and extraskeletal manifestations associated with this developmental syndrome. Because the patient had reached skeletal maturity and her cervicothoracic curve was rigid without evidence of progression, continued observation was recommended.